Mutagenetix > Incidental Mutation

Incidental Mutation 'R7390:Dcdc2a'

573385

Institutional Source

Beutler Lab

Gene Symbol

Dcdc2a

Ensembl Gene

ENSMUSG00000035910

Gene Name

doublecortin domain containing 2a

Synonyms

RU2, Dcdc2

MMRRC Submission

045472-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R7390 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25056004-25210706 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25107617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 195 (V195A)

Ref Sequence

ENSEMBL: ENSMUSP00000063650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036932] [ENSMUST00000069614]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036932
AA Change: V195A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047641
Gene: ENSMUSG00000035910
AA Change: V195A

Domain	Start	End	E-Value	Type
DCX	12	100	2.93e-40	SMART
DCX	134	221	1.76e-34	SMART
low complexity region	286	299	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069614
AA Change: V195A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063650
Gene: ENSMUSG00000035910
AA Change: V195A

Domain	Start	End	E-Value	Type
DCX	12	100	2.93e-40	SMART
DCX	134	221	1.76e-34	SMART
low complexity region	286	299	N/A	INTRINSIC
low complexity region	325	340	N/A	INTRINSIC
coiled coil region	409	437	N/A	INTRINSIC
low complexity region	461	475	N/A	INTRINSIC

Meta Mutation Damage Score

0.7134

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired short term object recognition, impaired visuo-spatial learning and memory and increased anxiety-related response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	G	9: 94,537,383 (GRCm38)	S165P	probably damaging	Het
4930486L24Rik	A	T	13: 60,844,338 (GRCm38)	D291E	probably benign	Het
Abca9	C	T	11: 110,145,661 (GRCm38)	V541I	probably benign	Het
Adamts15	A	T	9: 30,911,108 (GRCm38)		probably null	Het
Adgrg7	A	G	16: 56,732,844 (GRCm38)	I630T	probably damaging	Het
Ahnak	A	G	19: 9,003,205 (GRCm38)	I618V	probably benign	Het
Amotl2	T	A	9: 102,731,690 (GRCm38)	V801E	probably damaging	Het
Ankrd17	T	C	5: 90,282,920 (GRCm38)	T1002A	probably benign	Het
Bmp7	C	T	2: 172,870,205 (GRCm38)	D409N	probably damaging	Het
Bpifb2	A	G	2: 153,889,806 (GRCm38)	N293S	possibly damaging	Het
Ccdc162	A	G	10: 41,634,048 (GRCm38)	C854R	probably benign	Het
Ccdc171	A	G	4: 83,818,067 (GRCm38)	E1225G	probably damaging	Het
Cep350	T	C	1: 155,866,087 (GRCm38)	E2146G	possibly damaging	Het
Ces1a	A	C	8: 93,044,841 (GRCm38)		probably null	Het
Cfap45	T	G	1: 172,541,358 (GRCm38)	D444E	probably benign	Het
Cfap61	T	C	2: 146,001,882 (GRCm38)	V296A	probably benign	Het
Cgnl1	C	T	9: 71,645,649 (GRCm38)	R1011H	probably benign	Het
Cops4	C	T	5: 100,543,875 (GRCm38)	R347C	probably damaging	Het
D16Ertd472e	G	T	16: 78,547,688 (GRCm38)	D177E	probably benign	Het
Dpagt1	G	A	9: 44,332,022 (GRCm38)	V285I	probably benign	Het
Dspp	G	T	5: 104,175,686 (GRCm38)	A232S	probably damaging	Het
Ephx2	G	A	14: 66,110,455 (GRCm38)			Het
Fat1	T	C	8: 44,952,474 (GRCm38)	V754A	possibly damaging	Het
Fstl3	G	A	10: 79,780,031 (GRCm38)	C117Y	probably damaging	Het
Gldc	A	T	19: 30,099,914 (GRCm38)	S953T	possibly damaging	Het
Gm1123	T	C	9: 99,010,980 (GRCm38)	N315S	probably benign	Het
Gm11639	T	C	11: 104,724,585 (GRCm38)	I726T	possibly damaging	Het
Golga2	A	G	2: 32,288,190 (GRCm38)	E37G		Het
Gpr139	T	A	7: 119,144,612 (GRCm38)	Q250L	probably benign	Het
Grik3	C	T	4: 125,649,739 (GRCm38)	R283C	probably damaging	Het
Haao	A	C	17: 83,846,652 (GRCm38)	V22G	probably damaging	Het
Hspg2	T	A	4: 137,539,179 (GRCm38)	F1884I	probably damaging	Het
Hyal3	G	A	9: 107,584,967 (GRCm38)	G67S	probably damaging	Het
Kbtbd3	T	A	9: 4,330,424 (GRCm38)	I266K	probably benign	Het
Klhl26	A	C	8: 70,452,849 (GRCm38)	L137R	probably damaging	Het
Krt15	A	T	11: 100,135,560 (GRCm38)	V100E	possibly damaging	Het
Lars	A	G	18: 42,210,018 (GRCm38)		probably null	Het
Lats1	C	T	10: 7,702,095 (GRCm38)	Q328*	probably null	Het
Lingo3	G	A	10: 80,834,629 (GRCm38)	T489I	probably damaging	Het
Lmtk2	T	C	5: 144,129,443 (GRCm38)	V65A	possibly damaging	Het
Lysmd1	T	C	3: 95,138,484 (GRCm38)	S211P	probably damaging	Het
Med15	C	T	16: 17,722,762 (GRCm38)	S21N	unknown	Het
Nav1	T	C	1: 135,584,918 (GRCm38)	T135A	probably benign	Het
Nt5c1a	G	C	4: 123,208,479 (GRCm38)	R66T	probably benign	Het
Pclo	T	C	5: 14,682,010 (GRCm38)	Y3509H	unknown	Het
Pkp4	G	A	2: 59,310,140 (GRCm38)	G397R	possibly damaging	Het
Ppp1r21	G	A	17: 88,549,530 (GRCm38)	A138T	probably benign	Het
Pum3	A	T	19: 27,424,242 (GRCm38)	V136D	probably benign	Het
Rab11fip3	A	T	17: 26,068,152 (GRCm38)	D342E	possibly damaging	Het
Rcvrn	T	A	11: 67,700,057 (GRCm38)	W156R	probably damaging	Het
Rspry1	C	T	8: 94,623,185 (GRCm38)	T67I	probably benign	Het
Serpina1d	T	C	12: 103,767,778 (GRCm38)	D89G	possibly damaging	Het
Sgsm3	T	A	15: 81,008,820 (GRCm38)	V366E	possibly damaging	Het
Shank3	T	G	15: 89,549,312 (GRCm38)	L1420R	probably benign	Het
Sirpb1b	A	T	3: 15,543,040 (GRCm38)	L215*	probably null	Het
Slc16a13	C	T	11: 70,218,971 (GRCm38)	V235I	probably benign	Het
Slc16a14	T	C	1: 84,929,466 (GRCm38)	D29G	probably benign	Het
Speer1	T	C	5: 11,344,912 (GRCm38)	V122A	probably benign	Het
Spns2	T	A	11: 72,456,878 (GRCm38)	T329S	possibly damaging	Het
Sufu	G	A	19: 46,450,669 (GRCm38)		probably null	Het
Tll2	A	G	19: 41,120,169 (GRCm38)		probably null	Het
Trim10	G	A	17: 36,869,881 (GRCm38)	M1I	probably null	Het
Trim42	A	C	9: 97,359,129 (GRCm38)	N683K	probably damaging	Het
Trmt5	A	G	12: 73,281,620 (GRCm38)	S270P	probably damaging	Het
Vmn1r59	C	A	7: 5,453,987 (GRCm38)	R258L	possibly damaging	Het
Vmn2r32	A	G	7: 7,479,852 (GRCm38)	L41S	probably benign	Het
Vmn2r93	A	T	17: 18,305,067 (GRCm38)	E329V	probably damaging	Het
Ywhae	G	T	11: 75,764,661 (GRCm38)	E253*	probably null	Het

Other mutations in Dcdc2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Dcdc2a	APN	13	25,119,329 (GRCm38)	missense	probably benign	0.00
IGL01314:Dcdc2a	APN	13	25,102,604 (GRCm38)	missense	probably damaging	1.00
IGL02171:Dcdc2a	APN	13	25,056,434 (GRCm38)	missense	probably damaging	1.00
IGL02490:Dcdc2a	APN	13	25,107,652 (GRCm38)	missense	probably damaging	1.00
R0128:Dcdc2a	UTSW	13	25,187,672 (GRCm38)	splice site	probably benign
R0130:Dcdc2a	UTSW	13	25,187,672 (GRCm38)	splice site	probably benign
R0366:Dcdc2a	UTSW	13	25,056,434 (GRCm38)	missense	probably damaging	1.00
R0507:Dcdc2a	UTSW	13	25,102,589 (GRCm38)	missense	probably damaging	0.99
R0514:Dcdc2a	UTSW	13	25,119,386 (GRCm38)	missense	probably benign	0.04
R1055:Dcdc2a	UTSW	13	25,102,610 (GRCm38)	missense	probably damaging	0.99
R1170:Dcdc2a	UTSW	13	25,056,307 (GRCm38)	missense	probably benign	0.34
R1301:Dcdc2a	UTSW	13	25,102,586 (GRCm38)	missense	possibly damaging	0.93
R1514:Dcdc2a	UTSW	13	25,061,254 (GRCm38)	missense	probably benign	0.05
R1842:Dcdc2a	UTSW	13	25,107,602 (GRCm38)	missense	probably damaging	1.00
R2060:Dcdc2a	UTSW	13	25,107,710 (GRCm38)	missense	possibly damaging	0.59
R2121:Dcdc2a	UTSW	13	25,119,285 (GRCm38)	missense	possibly damaging	0.93
R2122:Dcdc2a	UTSW	13	25,119,285 (GRCm38)	missense	possibly damaging	0.93
R2900:Dcdc2a	UTSW	13	25,120,498 (GRCm38)	missense	probably benign	0.01
R3153:Dcdc2a	UTSW	13	25,102,357 (GRCm38)	missense	probably benign	0.03
R3154:Dcdc2a	UTSW	13	25,102,357 (GRCm38)	missense	probably benign	0.03
R4353:Dcdc2a	UTSW	13	25,056,491 (GRCm38)	missense	probably damaging	1.00
R4608:Dcdc2a	UTSW	13	25,061,240 (GRCm38)	nonsense	probably null
R5099:Dcdc2a	UTSW	13	25,107,698 (GRCm38)	missense	probably benign	0.12
R5128:Dcdc2a	UTSW	13	25,102,529 (GRCm38)	missense	probably damaging	1.00
R5181:Dcdc2a	UTSW	13	25,202,364 (GRCm38)	missense	possibly damaging	0.94
R5271:Dcdc2a	UTSW	13	25,187,688 (GRCm38)	missense	probably benign	0.35
R5869:Dcdc2a	UTSW	13	25,107,730 (GRCm38)	missense	probably benign	0.05
R6058:Dcdc2a	UTSW	13	25,056,371 (GRCm38)	missense	possibly damaging	0.82
R6146:Dcdc2a	UTSW	13	25,205,457 (GRCm38)	missense	probably benign	0.35
R6892:Dcdc2a	UTSW	13	25,056,460 (GRCm38)	missense	probably damaging	1.00
R6956:Dcdc2a	UTSW	13	25,119,366 (GRCm38)	missense	probably benign	0.02
R6972:Dcdc2a	UTSW	13	25,120,389 (GRCm38)	intron	probably benign
R6973:Dcdc2a	UTSW	13	25,120,389 (GRCm38)	intron	probably benign
R7097:Dcdc2a	UTSW	13	25,107,698 (GRCm38)	missense	probably benign	0.12
R7247:Dcdc2a	UTSW	13	25,102,391 (GRCm38)	missense	probably benign	0.00
R7570:Dcdc2a	UTSW	13	25,119,373 (GRCm38)	missense	probably benign
R7636:Dcdc2a	UTSW	13	25,102,622 (GRCm38)	missense	probably damaging	1.00
R7644:Dcdc2a	UTSW	13	25,107,691 (GRCm38)	missense	probably damaging	1.00
R7898:Dcdc2a	UTSW	13	25,102,378 (GRCm38)	missense	possibly damaging	0.67
R8070:Dcdc2a	UTSW	13	25,202,197 (GRCm38)	missense	probably benign	0.00
R8183:Dcdc2a	UTSW	13	25,107,650 (GRCm38)	missense	possibly damaging	0.95
R8829:Dcdc2a	UTSW	13	25,110,068 (GRCm38)	nonsense	probably null
R8865:Dcdc2a	UTSW	13	25,202,283 (GRCm38)	missense	probably benign	0.00
R8867:Dcdc2a	UTSW	13	25,202,283 (GRCm38)	missense	probably benign	0.00
R8868:Dcdc2a	UTSW	13	25,202,283 (GRCm38)	missense	probably benign	0.00
R9290:Dcdc2a	UTSW	13	25,202,330 (GRCm38)	missense	probably benign
R9694:Dcdc2a	UTSW	13	25,102,357 (GRCm38)	missense	probably benign	0.27
R9760:Dcdc2a	UTSW	13	25,205,460 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTTCAGCAAAGACCATGC -3'
(R):5'- TTACACTGATGTCGCCCCAC -3'

Sequencing Primer
(F):5'- ATCTCCAGTATGAAGGGCAGTTCC -3'
(R):5'- TGATGTCGCCCCACAAGTC -3'

Posted On

2019-09-13